Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1959 6
1960 2
1961 8
1962 7
1963 18
1964 19
1965 17
1966 12
1967 21
1968 21
1969 13
1970 25
1971 27
1972 30
1973 24
1974 20
1975 17
1976 30
1977 11
1978 30
1979 20
1980 16
1981 12
1982 27
1983 29
1984 17
1985 23
1986 18
1987 16
1988 16
1989 23
1990 20
1991 29
1992 22
1993 32
1994 22
1995 17
1996 19
1997 15
1998 20
1999 27
2000 22
2001 23
2002 22
2003 20
2004 24
2005 35
2006 30
2007 32
2008 19
2009 27
2010 29
2011 32
2012 39
2013 50
2014 48
2015 44
2016 56
2017 41
2018 35
2019 44
2020 49
2021 52
2022 57
2023 40
2024 53
2025 56
2026 34

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

1,693 results

Results by year

Filters applied: . Clear all
Page 1
Branched-chain alpha-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
Strauss KA, Carson VJ, Soltys K, Young ME, Bowser LE, Puffenberger EG, Brigatti KW, Williams KB, Robinson DL, Hendrickson C, Beiler K, Taylor CM, Haas-Givler B, Chopko S, Hailey J, Muelly ER, Shellmer DA, Radcliff Z, Rodrigues A, Loeven K, Heaps AD, Mazariegos GV, Morton DH. Strauss KA, et al. Mol Genet Metab. 2020 Mar;129(3):193-206. doi: 10.1016/j.ymgme.2020.01.006. Epub 2020 Jan 16. Mol Genet Metab. 2020. PMID: 31980395 Free article.
Over the past three decades, we studied 184 individuals with 174 different molecular variants of branched-chain alpha-ketoacid dehydrogenase activity, and here delineate essential clinical and biochemical aspects of the maple syrup urine disease (MSUD) …
Over the past three decades, we studied 184 individuals with 174 different molecular variants of branched-chain alpha-ketoacid dehydrogenase …
Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.
Frazier DM, Allgeier C, Homer C, Marriage BJ, Ogata B, Rohr F, Splett PL, Stembridge A, Singh RH. Frazier DM, et al. Mol Genet Metab. 2014 Jul;112(3):210-7. doi: 10.1016/j.ymgme.2014.05.006. Epub 2014 May 17. Mol Genet Metab. 2014. PMID: 24881969 Free article.
The first guideline to be completed is for maple syrup urine disease (MSUD). This report describes the methodology used in its development: formulation of five research questions; review, critical appraisal and abstraction of peer-reviewed studies and …
The first guideline to be completed is for maple syrup urine disease (MSUD). This report describes the methodolo …
Neonatal maple syrup urine disease case report and literature review.
Liu Q, Li F, Zhou J, Liu X, Peng J, Gong L. Liu Q, et al. Medicine (Baltimore). 2022 Dec 16;101(50):e32174. doi: 10.1097/MD.0000000000032174. Medicine (Baltimore). 2022. PMID: 36550798 Free PMC article. Review.
RATIONALE: The main clinical symptoms of maple syrup urine disease (MSUD) are dehydration, acidosis, nervous system symptoms and intellectual disability. ...DIAGNOSES: Blood tandem mass spectrometry, urine organic acid detection, and genetic …
RATIONALE: The main clinical symptoms of maple syrup urine disease (MSUD) are dehydration, acidosis, nervous sys …
Inflammation in maple syrup urine disease.
Böttcher AK, Tedesco L, Dos Reis BG, Lopes FF, Tonelotto D, Wailer LR, Vargas CR. Böttcher AK, et al. Clin Chim Acta. 2026 Jan 30;580:120755. doi: 10.1016/j.cca.2025.120755. Epub 2025 Nov 30. Clin Chim Acta. 2026. PMID: 41330459 Review.
Maple syrup urine disease (MSUD), also called leucinosis, is a rare inborn error of metabolism characterized by the deficiency of an enzyme complex: branched-chain alpha-keto acid dehydrogenase (BCKAD). ...As the patient with MSUD cannot directly break …
Maple syrup urine disease (MSUD), also called leucinosis, is a rare inborn error of metabolism characterized by …
Maple Syrup Urine Disease.
Lai B, Zhong J. Lai B, et al. Radiology. 2024 Jan;310(1):e232039. doi: 10.1148/radiol.232039. Radiology. 2024. PMID: 38193837 No abstract available.
Maple-syrup-urine disease.
Wendel U, Lombeck I, Bremer HJ. Wendel U, et al. N Engl J Med. 1983 May 5;308(18):1100-1. doi: 10.1056/nejm198305053081816. N Engl J Med. 1983. PMID: 6835327 No abstract available.
Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes.
Sulaiman RA, Altassan R, Alshammari R, Alsayed M, Sheikh AN, Nicolas-Jilwan M, Al-Owain M, Al-Hassnan Z. Sulaiman RA, et al. Orphanet J Rare Dis. 2025 Nov 19;20(1):594. doi: 10.1186/s13023-025-04043-1. Orphanet J Rare Dis. 2025. PMID: 41257986 Free PMC article. Review.
BACKGROUND: Maple syrup urine disease (MSUD) is an inherited neurometabolic disorder caused by a deficiency of branched-chain alpha-keto acid dehydrogenase complex activity. ...Early recognition and prompt treatment of encephalopathy is challenging, pa …
BACKGROUND: Maple syrup urine disease (MSUD) is an inherited neurometabolic disorder caused by a deficiency of b …
Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review.
Jiang HH, Guo Y, Shen X, Wang Y, Dai TT, Rong H, Cheng R, Zhao F. Jiang HH, et al. J Pediatr Endocrinol Metab. 2021 Jun 30;34(9):1147-1156. doi: 10.1515/jpem-2020-0746. Print 2021 Sep 27. J Pediatr Endocrinol Metab. 2021. PMID: 34187135 Review.
OBJECTIVES: To report two novel mutations in the BCKDHB gene with Maple syrup urine disease (MSUD) and compare their data with 52 cases of MSUD reported in the available Chinese literature. ...A total of 49 cases had the symptom of poor feeding (94.2%) …
OBJECTIVES: To report two novel mutations in the BCKDHB gene with Maple syrup urine disease (MSUD) and compare t …
[Maple syrup urine disease].
Indo Y. Indo Y. Nihon Rinsho. 2002 Apr;60 Suppl 4:783-7. Nihon Rinsho. 2002. PMID: 12013999 Review. Japanese. No abstract available.
[Maple syrup urine disease].
Matsumura R. Matsumura R. Ryoikibetsu Shokogun Shirizu. 2000;(29 Pt 4):393-4. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11031979 Review. Japanese. No abstract available.
1,693 results